Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.M217L
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COL1A1

NM_000088.4:p.M217L

Associated Papers

Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.

Fan Q et al.

Nature Communications, 2023

37696869 (PubMed )
Supplement: 41467_2023_41256_MOESM3_ESM.xlsx › Supplementary_Data_11

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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